A mammalian beta-hexosaminidase isoform that is a heteromeric protein comprized of both hexosaminidase alpha and hexosaminidase beta subunits. Deficiency of hexosaminidase A due to mutations in the gene encoding the hexosaminidase alpha subunit is a case of TAY-SACHS DISEASE. Deficiency of hexosaminidase A and HEXOSAMINIDASE B due to mutations in the gene encoding the hexosaminidase beta subunit is a case of SANDHOFF DISEASE.

Annotation

for deficiency consider: SANDHOFF DISEASE or TAY-SACHS DISEASE

DUI

D054818 MeSH Browser

CUI

M0002425

Previous indexing

beta-N-Acetylhexosaminidases (1999-2007)

History note

2008(1987); for HEXOSAMINIDASE A use BETA-N-ACETYLHEXOSAMINIDASE 1987-2007

Public note

2008; for HEXOSAMINIDASE A see BETA-N-ACETYLHEXOSAMINIDASE 1987-2007